PDF(Pubmed)
Abstract：
BACKGROUND: Cognitive changes in Huntington\'s disease (HD) precede motor manifestations. ENROLL-HD platform includes four cognitive measures of information processing speed (IPS). Our group is eager to seek clinical markers in the life stage that is as close as possible to the age of onset (ie, the so called prodromal HD phase) because this is the best time for therapeutic interventions.
OBJECTIVE: Our study aimed to test whether cognitive scores in prodromal ENROLL-HD mutation carriers show the potential to predict the severity of motor and behavioral changes once HD became fully manifested.
METHODS: From the global ENROLL-HD cohort of 21,343 participants, we first selected a premanifest Cohort#1 (ie, subjects with Total Motor Score (TMS) <10 and Diagnostic Confidence Level (DCL) <4, N = 1.222). From this cohort, we then focused on a prodromal Cohort#2 of subjects who were ascertained to phenoconvert into manifest HD at follow-up visits (ie, subjects from 6 ≤ TMS≤9 and DCL <4 to TMS≥10 and DCL = 4, n = 206).
RESULTS: The main results of our study showed that low IPS before phenoconversion in Cohort#2 predicted the severity of motor and behavioral manifestations. By combining the four IPS cognitive measures (eg, the Categorical Verbal Fluency Test; Stroop Color Naming Test; Stroop Word Reading; Symbol Digit Modalities Test), we generated a Composite Cognition Score (CCS). The lower the CCS score the higher the TMS and the apathy scores in the same longitudinally followed-up patients after phenoconversion.
CONCLUSIONS: CCS might represent a clinical instrument to predict the prognosis of mutation carriers who are close to manifesting HD.
OBJECTIVE: Our study aimed to test whether cognitive scores in prodromal ENROLL-HD mutation carriers show the potential to predict the severity of motor and behavioral changes once HD became fully manifested.
METHODS: From the global ENROLL-HD cohort of 21,343 participants, we first selected a premanifest Cohort#1 (ie, subjects with Total Motor Score (TMS) <10 and Diagnostic Confidence Level (DCL) <4, N = 1.222). From this cohort, we then focused on a prodromal Cohort#2 of subjects who were ascertained to phenoconvert into manifest HD at follow-up visits (ie, subjects from 6 ≤ TMS≤9 and DCL <4 to TMS≥10 and DCL = 4, n = 206).
RESULTS: The main results of our study showed that low IPS before phenoconversion in Cohort#2 predicted the severity of motor and behavioral manifestations. By combining the four IPS cognitive measures (eg, the Categorical Verbal Fluency Test; Stroop Color Naming Test; Stroop Word Reading; Symbol Digit Modalities Test), we generated a Composite Cognition Score (CCS). The lower the CCS score the higher the TMS and the apathy scores in the same longitudinally followed-up patients after phenoconversion.
CONCLUSIONS: CCS might represent a clinical instrument to predict the prognosis of mutation carriers who are close to manifesting HD.
摘要：
背景：亨廷顿病（HD）的认知变化先于运动表现。ENROLL-HD平台包括四个信息处理速度（IPS）的认知指标。我们小组渴望在尽可能接近发病年龄的生命阶段寻求临床标志物（即，所谓的前驱HD阶段），因为这是治疗干预的最佳时机。
目的：我们的研究旨在测试ENROLL-HD突变前驱携带者的认知评分是否显示出预测HD完全表现后运动和行为变化严重程度的潜力。
方法：从21,343名参与者的全球ENROLL-HD队列中，我们首先选择了一个预定队列#1(即，总运动评分(TMS)<10和诊断置信水平(DCL)<4,N=1.222)的受试者。从这个队列中，然后，我们专注于前驱队列#2的受试者，这些受试者在随访时被确定为明显的HD（即，受试者从6≤TMS≤9，DCL<4到TMS≥10，DCL=4，n=206)。
结果：我们研究的主要结果表明，队列＃2中表型转换前的低IPS预测了运动和行为表现的严重程度。通过结合四种IPS认知测量(例如，分类动词流畅性测试；Stroop颜色命名测试；Stroop单词阅读；符号数字模式测试），我们生成了综合认知评分(CCS)。在表型转换后的相同纵向随访患者中，CCS评分越低，TMS和冷漠评分越高。
结论：CCS可能是一种临床工具，用于预测接近表现为HD的突变携带者的预后。
目的：我们的研究旨在测试ENROLL-HD突变前驱携带者的认知评分是否显示出预测HD完全表现后运动和行为变化严重程度的潜力。
方法：从21,343名参与者的全球ENROLL-HD队列中，我们首先选择了一个预定队列#1(即，总运动评分(TMS)<10和诊断置信水平(DCL)<4,N=1.222)的受试者。从这个队列中，然后，我们专注于前驱队列#2的受试者，这些受试者在随访时被确定为明显的HD（即，受试者从6≤TMS≤9，DCL<4到TMS≥10，DCL=4，n=206)。
结果：我们研究的主要结果表明，队列＃2中表型转换前的低IPS预测了运动和行为表现的严重程度。通过结合四种IPS认知测量(例如，分类动词流畅性测试；Stroop颜色命名测试；Stroop单词阅读；符号数字模式测试），我们生成了综合认知评分(CCS)。在表型转换后的相同纵向随访患者中，CCS评分越低，TMS和冷漠评分越高。
结论：CCS可能是一种临床工具，用于预测接近表现为HD的突变携带者的预后。
